Haemophilia A: health and economic burden of a rare disease in Portugal
Café, Andreia, Carvalho, Manuela, Crato, Miguel, Faria, Miguel, Kjollerstrom, Paula, Oliveira, Cristina, Pinto, Patrícia R, Salvado, Ramón, Dos Santos, Alexandra Aires, Silva, Catarina
Published in Orphanet journal of rare diseases (04.09.2019)
Published in Orphanet journal of rare diseases (04.09.2019)
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Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS
Fidalgo, Teresa, Salvado, Ramon, Corrales, Irene, Pinto, Silva Catarina, Borràs, Nina, Oliveira, Ana, Martinho, Patricia, Ferreira, Gisela, Almeida, Helena, Oliveira, Cristina, Marques, Dalila, Gonçalves, Elsa, Diniz, MJoão, Antunes, Margarida, Tavares, Alice, Caetano, Gonçalo, Kjöllerström, Paula, Maia, Raquel, Sevivas, Teresa S, Vidal, Francisco, Ribeiro, Leticia
Published in Thrombosis and haemostasis (04.07.2016)
Published in Thrombosis and haemostasis (04.07.2016)
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NEXT GENERATION SEQUENCING APPROACH TO BONE MARROW FAILURE SYNDROMES – PORTUGUESE EXPERIENCE
Coucelo, Margarida, Azevedo, Joana, Bogalho, Isabel, Simões, Ana Teresa, Oliveira, Ana Catarina, Batalha, Sara, Constanço, Conceição, Melo, Teresa, Almeida, José Carlos, Desterro, Joana, Ribeiro, Patricia, Costa, Emilia, Ferrão, Anabela, Kjollerstrom, Paula, Geraldes, Catarina
Published in EJC paediatric oncology (01.12.2023)
Published in EJC paediatric oncology (01.12.2023)
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Journal Article
SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS
Leardini, Davide, Cerasi, Sara, Baccelli, Francesco, Gottardi, Francesca, Muratore, Edoardo, Kállay, Krisztián Miklós, Kjollerstrom, Paula, Batalha, Sara, Rumi, Elisa, Santini, Valeria, Raddi, Marco Gabriele, Rao, Anupama, Rio-Machin, Ana, Masetti, Riccardo
Published in EJC paediatric oncology (01.12.2023)
Published in EJC paediatric oncology (01.12.2023)
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GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS
Kotmayer, Lili, Kozyra, Emilia, Kaiser, Maximilian, Dworzak, Michael, Moerloose, Barbara De, Starý, Jan, Hasle, Henrik, Jahnukainen, Kirsi, Polychronopoulou, Sophia, Kállay, Krisztián, Smith, Owen, Barzilai, Shlomit, Masetti, Riccardo, Buechner, Jochen, Ussowicz, Marek, Kjollerstrom, Paula, Boďová, Ivana, Kavcic, Marko, Catala, Albert, Turkiewicz, Dominik, Schmugge, Markus, Haas, Valérie De, Voss, Rebecca, Bigas, Anna, Romero, Damia, Bödör, Csaba, Erlacher, Miriam, Giorgetti, Alessandra, Niemeyer, Charlotte, Wlodarski, Marcin
Published in EJC paediatric oncology (01.12.2023)
Published in EJC paediatric oncology (01.12.2023)
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NPM1 MUTATIONS IN CHILDREN WITH MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS
Yoshimi, Ayami, Erlacher, Miriam, Noellke, Peter, Ramamoorthy, Senthilkumar, Göhring, Gudrun, Birenboim, Shlomit Barzilai –, Bodova, Ivana, Buechner, Jochen, Catala, Albert, Haas, Valérie De, Moerloose, Barbara De, Dworzak, Michael, Hasle, Henrik, Jahnukainen, Kirsi, Kallay, Krisztian, Kavcic, Marko, Kjollerstrom, Paula, Locatelli, Franco, Masetti, Riccardo, Polychronopoulou, Sophia, Schmugge, Markus, Smith, Owen, Stary, Jan, Turkiewicz, Dominik, Ussowicz, Marek, Rotari, Natalia, Wlodarski, Marcin, Strahm, Brigitte, Niemeyer, Charlotte
Published in EJC paediatric oncology (01.12.2023)
Published in EJC paediatric oncology (01.12.2023)
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Osteoarticular infections in paediatric sickle cell disease: in the era of multidrugresistant bacteria
Gouveia, Catarina, Duarte, Mariana, Norte, Susana, Alves, Pedro, Kjöllerström, Paula, Brito, Maria, Tavares, Delfin
Published in British journal of haematology (01.05.2020)
Published in British journal of haematology (01.05.2020)
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Cutaneous hyperpigmentation and cobalamin deficiency
Machado, Raquel, Furtado, Filipa, Kjöllerström, Paula, Cunha, Florbela
Published in British journal of haematology (01.09.2016)
Published in British journal of haematology (01.09.2016)
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Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia
Silva, Marisa, Vargas, Sofia, Coelho, Andreia, Ferreira, Emanuel, Mendonça, Joana, Vieira, Luís, Maia, Raquel, Dias, Alexandra, Ferreira, Teresa, Morais, Anabela, Soares, Isabel Mota, Lavinha, João, Silva, Rita, Kjöllerström, Paula, Faustino, Paula
Published in Blood cells, molecules, & diseases (01.07.2020)
Published in Blood cells, molecules, & diseases (01.07.2020)
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Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia
Nicolau, Marta, Vargas, Sofia, Silva, Marisa, Coelho, Andreia, Ferreira, Emanuel, Mendonça, Joana, Vieira, Luís, Kjöllerström, Paula, Maia, Raquel, Silva, Rita, Dias, Alexandra, Ferreira, Teresa, Morais, Anabela, Soares, Isabel Mota, Lavinha, João, Faustino, Paula
Published in Annals of hematology (01.12.2019)
Published in Annals of hematology (01.12.2019)
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Spontaneous neonatal humeral artery thromboembolism: a case report
Faustino, Joana, Carvalho, Ana Araújo, Ferreira, Sara Tavares, Kjöllerström, Paula
Published in BMJ case reports (28.04.2021)
Published in BMJ case reports (28.04.2021)
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Journal Article
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
Sahoo, Sushree S, Pastor, Victor B, Goodings, Charnise, Voss, Rebecca K, Kozyra, Emilia J, Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P, Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R, Sauer, Martin G, Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H, Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K, Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M, Wlodarski, Marcin W
Published in Nature medicine (01.10.2021)
Published in Nature medicine (01.10.2021)
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Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia
Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Loureiro, Pedro, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Reis, Ana Batalha, Pina, Francisca, Maia, Raquel, Kjöllerström, Paula, Monteiro, Estela, Lacerda, João F., Lavinha, João, Gonçalves, João, Faustino, Paula
Published in Annals of hematology (01.11.2017)
Published in Annals of hematology (01.11.2017)
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Hemorheological alterations in sickle cell anemia and their clinical consequences - The role of genetic modulators
Silva, Marisa, Vargas, Sofia, Coelho, Andreia, Dias, Alexandra, Ferreira, Teresa, Morais, Anabela, Maia, Raquel, Kjöllerström, Paula, Lavinha, João, Faustino, Paula
Published in Clinical hemorheology and microcirculation (01.01.2016)
Published in Clinical hemorheology and microcirculation (01.01.2016)
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Comparison of outcomes of immunosuppressive therapy with rabbit versus horse antithymocyte globulin and cyclosporine a in children with acquired severe aplastic anemia
Yoshimi, Ayami, Noellke, Peter, Starý, Jan, Kállay, Krisztián, Smith, Owen, Locatelli, Franco, Buechner, Jochen, Bodova, Ivana, Sevilla, Julian, Schmugge, Markus, Bierings, Marc, Masmas, Tania, Dworzak, Michael, Labarque, Veerle, Pawelec, Katarzyna, Jahnukainen, Kirsi, Polychronopoulou, Sophia, Kjollerstrom, Paula, Kavcic, Marko, Erlacher, Miriam, Niemeyer, Charlotte M., Strahm, Brigitte
Published in American journal of hematology (01.07.2024)
Published in American journal of hematology (01.07.2024)
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Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome
Salva, Inês, Batalha, Sara, Maia, Raquel, Kjollerstrom, Paula
Published in Platelets (Edinburgh) (18.05.2016)
Published in Platelets (Edinburgh) (18.05.2016)
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Linezolid in the treatment of multidrug-resistant/extensively drug-resistant tuberculosis in paediatric patients: Experience of a paediatric infectious diseases unit
Kjöllerström, Paula, Brito, Maria João, Gouveia, Catarina, Ferreira, Gonçalo, Varandas, Luís
Published in Scandinavian journal of infectious diseases (01.07.2011)
Published in Scandinavian journal of infectious diseases (01.07.2011)
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Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters
Aguiar, Laura, Matos, Andreia, Gil, Ângela, Afonso, Conceição, Almeida, Salomé, Braga, Lígia, Lavinha, João, Kjollerstrom, Paula, Faustino, Paula, Bicho, Manuel, Inácio, Ângela
Published in Clinical hemorheology and microcirculation (01.01.2016)
Published in Clinical hemorheology and microcirculation (01.01.2016)
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